Canonical Allele Identifier: CA125046
Gene: HBB HGNC NCBI

Linked Data

ClinVar Variation Id: 15278
ClinVar RCV Id: RCV001835628
dbSNP Id: rs33914359
gnomAD v2: 11-5247836-T-C
gnomAD v3: 11-5226606-T-C
gnomAD v4: 11-5226606-T-C
MyVariant Identifiers: chr11:g.5247836T>C (hg19) chr11:g.5226606T>C (hg38)
PubMed: PMID:993333 PMID:4086303 PMID:5773089 PMID:5886928 PMID:5961314 PMID:6034218 PMID:19750260 PMID:24099628 PMID:26850598 PMID:26901597 PMID:27207683
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226606T>C , CM000673.2:g.5226606T>C GRCh38
NC_000011.9:g.5247836T>C , CM000673.1:g.5247836T>C GRCh37
NC_000011.8:g.5204412T>C NCBI36
NG_000007.3:g.71010A>G
NG_059281.1:g.5466A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000647020.1:c.286A>G ENSP00000494175.1:p.Lys96Glu
ENST00000335295.4:c.286A>G MANE Select ENSP00000333994.3:p.Lys96Glu
ENST00000475226.1:n.218A>G
ENST00000485743.1:n.337A>G
ENST00000633227.1:c.*102A>G ENSP00000488004.1:n.*102A>G
NM_000518.4:c.286A>G NP_000509.1:p.Lys96Glu
NM_000518.5:c.286A>G MANE Select NP_000509.1:p.Lys96Glu
Search 100 bp 5'
Search 100 bp 3'